Hereditary neuropathy or pain disorder
Gene: PNPLA6EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
7 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 1:11 p.m. | Last Modified: 26 Sep 2024, 1:11 p.m.
Panel Version: 5.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
At least five PNPLA6 variants have been associated with OMIM:612020 in four unrelated cases. This gene should be green on this panel, as the panel scope now includes complex phenotypes.Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oliver-McFarlane syndrome, OMIM:275400; Spastic paraplegia 39, autosomal recessive, OMIM:612020; Boucher-Neuhauser syndrome, OMIM:215470
Louise Daugherty (Genomics England Curator)
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - minor feature / Broader phenotype: Natalie no evidence of clear association with neuropathyCreated: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46Created: 17 Mar 2024, 9:30 p.m. | Last Modified: 17 Mar 2024, 9:30 p.m.
Panel Version: 3.83
Complex phenotype with neuropathy (>3 families)Created: 2 Jun 2019, 9:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence
Publications
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- South West GLH
- Emory Genetics Laboratory
- London North GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Hereditary Neuropathies
- Childhood onset of slowly progressive spastic paraplegia
- progressive distal motor neuropathy beginning in early through late adolescence
- OMIM
- 603197
- Clinvar variants
- Variants in PNPLA6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Limb disorders
- DDG2P
- Intellectual disability
- Monogenic short stature
- Adult onset neurodegenerative disorder
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- IUGR and IGF abnormalities
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: PNPLA6. Tag Q2_24_NHS_review was removed from gene: PNPLA6.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to PNPLA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_24_promote_green tag was added to gene: PNPLA6. Tag Q2_24_NHS_review tag was added to gene: PNPLA6.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to PNPLA6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,London North GLH,NHS GMS Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 24355708 Phenotypes for gene: PNPLA6 were set to Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia; progressive distal motor neuropathy beginning in early through late adolescence